mitochondrial, ODPA_HUMAN, PDH, PDHA, PDHA1, PDHCE1A, PDHE1 A type I, PDHE1-A type I, PHE1A, Pyruvate Dehydrogenase (lipoamide) alpha 1, Pyruvate dehydrogenase complex, E1 alpha polypeptide 1, Pyruvate Dehydrogenase E1 alpha, Pyruvate dehydrogenase E1 component subunit alpha, Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial, somatic form.
The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). Catalyzes the removal of CO2 from pyruvate. Mutations in the alpha subunits of pyruvate dehydrogenase (E1) lead to congenital defects that are usually associated with lactic acidosis, neurodegeneration and early death.
